rs72554626
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(T;T) | 0 | common in complete genomics |
Make rs72554626(A;G) |
Make rs72554626(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 142912000 |
Gene | CYP11B2 |
is a | snp |
is | mentioned by |
dbSNP | rs72554626 |
dbSNP (classic) | rs72554626 |
ClinGen | rs72554626 |
ebi | rs72554626 |
HLI | rs72554626 |
Exac | rs72554626 |
Gnomad | rs72554626 |
Varsome | rs72554626 |
LitVar | rs72554626 |
Map | rs72554626 |
PheGenI | rs72554626 |
Biobank | rs72554626 |
1000 genomes | rs72554626 |
hgdp | rs72554626 |
ensembl | rs72554626 |
geneview | rs72554626 |
scholar | rs72554626 |
rs72554626 | |
pharmgkb | rs72554626 |
gwascentral | rs72554626 |
openSNP | rs72554626 |
23andMe | rs72554626 |
SNPshot | rs72554626 |
SNPdbe | rs72554626 |
MSV3d | rs72554626 |
GWAS Ctlg | rs72554626 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72554626(G;G) |
Alt | rs72554626(G;G) |
Reference | Rs72554626(A;A) |
Significance | Pathogenic |
Disease | Corticosterone methyloxidase type 2 deficiency |
Variation | info |
Gene | CYP11B2 |
CLNDBN | Corticosterone methyloxidase type 2 deficiency |
Reversed | 1 |
HGVS | NC_000008.10:g.143993416T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000018381.27, |